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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "N"

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OMIM IDHuman Disease
OMIM:608156 Nablus Mask-Like Facial Syndrome; NMLFS
OMIM:614063 N-Acetylaspartate Deficiency; NACED
OMIM:237310 N-Acetylglutamate Synthase Deficiency; NAGSD
OMIM:125860 Nad(p)h Dehydrogenase, Quinone 1; NQO1
OMIM:161000 Naegeli-Franceschetti-Jadassohn Syndrome; NFJS
OMIM:614157 Nail Disorder, Nonsyndromic Congenital, 10; NDNC10
OMIM:161050 Nail Disorder, Nonsyndromic Congenital, 1; NDNC1
OMIM:149300 Nail Disorder, Nonsyndromic Congenital, 2; NDNC2
OMIM:151600 Nail Disorder, Nonsyndromic Congenital, 3; NDNC3
OMIM:206800 Nail Disorder, Nonsyndromic Congenital, 4; NDNC4
OMIM:164800 Nail Disorder, Nonsyndromic Congenital, 5; NDNC5
OMIM:107000 Nail Disorder, Nonsyndromic Congenital, 6; NDNC6
OMIM:605779 Nail Disorder, Nonsyndromic Congenital, 7; NDNC7
OMIM:607523 Nail Disorder, Nonsyndromic Congenital, 8; NDNC8
OMIM:614149 Nail Disorder, Nonsyndromic Congenital, 9; NDNC9
OMIM:256020 Nail-Patella-Like Renal Disease
OMIM:161200 Nail-Patella Syndrome; NPS
OMIM:302350 Nance-Horan Syndrome; NHS
OMIM:600165 Nanophthalmos 1; NNO1
OMIM:609549 Nanophthalmos 2; NNO2
OMIM:611897 Nanophthalmos 3; NNO3
OMIM:615972 Nanophthalmos 4; NNO4
OMIM:161400 Narcolepsy 1; NRCLP1
OMIM:605841 Narcolepsy 2, Susceptibility To; NRCLP2
OMIM:609039 Narcolepsy 3; NRCLP3
OMIM:612417 Narcolepsy 4, Susceptibility To; NRCLP4
OMIM:612851 Narcolepsy 5, Susceptibility To; NRCLP5
OMIM:614223 Narcolepsy 6, Susceptibility To; NRCLP6
OMIM:614250 Narcolepsy 7; NRCLP7
OMIM:161470 Nasal Alar Collapse, Bilateral
OMIM:161480 Nasal Bones, Absence of
OMIM:161500 Nasal Groove, Familial Transverse
OMIM:161530 Nasal Hyperpigmentation, Familial Transverse
OMIM:255980 Nasodigitoacoustic Syndrome
OMIM:167730 Nasopalpebral Lipoma-Coloboma Syndrome; NPLCS
OMIM:607107 Nasopharyngeal Carcinoma
OMIM:161550 Nasopharyngeal Carcinoma, Susceptibility to, 2; NPCA2
OMIM:617075 Nasopharyngeal Carcinoma, Susceptibility to, 3; NPCA3
OMIM:255990 Nathalie Syndrome
OMIM:255995 Native American Myopathy; NAM
OMIM:161600 Navicular Bone, Accessory
OMIM:601214 Naxos Disease; NXD
OMIM:161700 Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
OMIM:616165 Nemaline Myopathy 10; NEM10
OMIM:617336 Nemaline Myopathy 11, Autosomal Recessive; NEM11
OMIM:609284 Nemaline Myopathy 1; NEM1
OMIM:256030 Nemaline Myopathy 2; NEM2
OMIM:161800 Nemaline Myopathy 3; NEM3
OMIM:609285 Nemaline Myopathy 4; NEM4
OMIM:605355 Nemaline Myopathy 5; NEM5
OMIM:609273 Nemaline Myopathy 6; NEM6
OMIM:610687 Nemaline Myopathy 7; NEM7
OMIM:615348 Nemaline Myopathy 8; NEM8
OMIM:615731 Nemaline Myopathy 9; NEM9
OMIM:300539 Nephrogenic Syndrome of Inappropriate Antidiuresis; NSIAD
OMIM:167030 Nephrolithiasis, Calcium Oxalate; CAON
OMIM:612286 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1
OMIM:612287 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2; NPHLOP2
OMIM:605990 Nephrolithiasis, Uric Acid, Susceptibility to
OMIM:310468 Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN
OMIM:613550 Nephronophthisis 11; NPHP11
OMIM:613820 Nephronophthisis 12; NPHP12
OMIM:614377 Nephronophthisis 13; NPHP13
OMIM:614844 Nephronophthisis 14; NPHP14
OMIM:614845 Nephronophthisis 15; NPHP15
OMIM:615382 Nephronophthisis 16; NPHP16
OMIM:615862 Nephronophthisis 18; NPHP18
OMIM:616217 Nephronophthisis 19; NPHP19
OMIM:256100 Nephronophthisis 1; NPHP1
OMIM:617271 Nephronophthisis 20; NPHP20
OMIM:602088 Nephronophthisis 2; NPHP2
OMIM:604387 Nephronophthisis 3; NPHP3
OMIM:606966 Nephronophthisis 4; NPHP4
OMIM:611498 Nephronophthisis 7; NPHP7
OMIM:613824 Nephronophthisis 9; NPHP9
OMIM:613159 Nephronophthisis-Like Nephropathy 1; NPHPL1
OMIM:551200 Nephropathy, Chronic Tubulointerstitial
OMIM:256120 Nephropathy, Deafness, and Hyperparathyroidism
OMIM:602114 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
OMIM:609469 Nephropathy, Progressive, with Deafness
OMIM:609057 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
OMIM:256150 Nephrosialidosis
OMIM:256200 Nephrosis with Deafness and Urinary Tract and Digital Malformations
OMIM:617575 Nephrotic Syndrome 14; NPHS14
OMIM:617609 Nephrotic Syndrome 15; NPHS15
OMIM:617783 Nephrotic Syndrome 16; NPHS16
OMIM:615861 Nephrotic Syndrome, Type 10; NPHS10
OMIM:616730 Nephrotic Syndrome, Type 11; NPHS11
OMIM:616892 Nephrotic Syndrome, Type 12; NPHS12
OMIM:616893 Nephrotic Syndrome, Type 13; NPHS13
OMIM:256300 Nephrotic Syndrome, Type 1; NPHS1
OMIM:600995 Nephrotic Syndrome, Type 2; NPHS2
OMIM:610725 Nephrotic Syndrome, Type 3; NPHS3
OMIM:256370 Nephrotic Syndrome, Type 4; NPHS4
OMIM:614199 Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities;
OMIM:614196 Nephrotic Syndrome, Type 6; NPHS6
OMIM:615008 Nephrotic Syndrome, Type 7; NPHS7
OMIM:615244 Nephrotic Syndrome, Type 8; NPHS8
OMIM:615573 Nephrotic Syndrome, Type 9; NPHS9
OMIM:162020 Nerve Growth Factor, Alpha Subunit; NGFA
OMIM:614008 Nestor-Guillermo Progeria Syndrome; NGPS
OMIM:256500 Netherton Syndrome; NETH
OMIM:256520 Neu-Laxova Syndrome 1; NLS1
OMIM:616038 Neu-Laxova Syndrome 2; NLS2
OMIM:601634 Neural Tube Defects, Folate-Sensitive; NTDFS
OMIM:182940 Neural Tube Defects, Susceptibility To; NTD
OMIM:301410 Neural Tube Defects, X-Linked
OMIM:256550 Neuraminidase Deficiency
OMIM:256700 Neuroblastoma, Susceptibility to
OMIM:613013 Neuroblastoma, Susceptibility to, 2; NBLST2
OMIM:613014 Neuroblastoma, Susceptibility to, 3; NBLST3
OMIM:613015 Neuroblastoma, Susceptibility to, 4; NBLST4
OMIM:613016 Neuroblastoma, Susceptibility to, 5; NBLST5
OMIM:613017 Neuroblastoma, Susceptibility to, 6; NBLST6
OMIM:616792 Neuroblastoma, Susceptibility to, 7; NBLST7
OMIM:617672 Neurodegeneration, Childhood-Onset, with Brain Atrophy; CONDBA
OMIM:613068 Neurodegeneration Due to Cerebral Folate Transport Deficiency
OMIM:617145 Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-Onset; NADGP
OMIM:234200 Neurodegeneration with Brain Iron Accumulation 1; NBIA1
OMIM:256600 Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A
OMIM:610217 Neurodegeneration with Brain Iron Accumulation 2B; NBIA2B
OMIM:606159 Neurodegeneration with Brain Iron Accumulation 3; NBIA3
OMIM:614298 Neurodegeneration with Brain Iron Accumulation 4; NBIA4
OMIM:300894 Neurodegeneration with Brain Iron Accumulation 5; NBIA5
OMIM:615643 Neurodegeneration with Brain Iron Accumulation 6; NBIA6
OMIM:617710 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or without Seizures; NEMMLAS
OMIM:617807 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter; NDAGSCW
OMIM:617755 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies; NEDDFL
OMIM:617393 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination; NECFM
OMIM:617268 Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language; NDHSAL
OMIM:617493 Neurodevelopmental Disorder with Involuntary Movements; NEDIM
OMIM:617709 Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures;
OMIM:617862 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy; NEDMEBA
OMIM:617481 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies; NMIHBA
OMIM:617802 Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy; NDMSCA
OMIM:617523 Neurodevelopmental Disorder with Midbrain and Hindbrain Malformations; NEDMHM
OMIM:617865 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features; NEDMAGA
OMIM:616975 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart; NEDBEH
OMIM:614254 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant; NDHMSD
OMIM:617820 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive; NDHMSR
OMIM:617864 Neurodevelopmental Disorder with or without Seizures and Gait Abnormalities; NEDSGA
OMIM:617527 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies; NDMSBA
OMIM:617804 Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language; NEDMIAL
OMIM:603641 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
OMIM:256690 Neurofaciodigitorenal Syndrome
OMIM:162210 Neurofibromatosis, Familial Spinal
OMIM:601321 Neurofibromatosis-Noonan Syndrome; NFNS
OMIM:162240 Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
OMIM:162260 Neurofibromatosis, Type III, Mixed Central and Peripheral; NF3A
OMIM:101000 Neurofibromatosis, Type II; NF2
OMIM:162200 Neurofibromatosis, Type I; NF1
OMIM:162270 Neurofibromatosis, Type IV, of Riccardi; NF4
OMIM:256720 Neurologic Disease, Infantile Multisystem, with Osseous Fragility
OMIM:616263 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset; IMNEPD
OMIM:137200 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive; NMAN
OMIM:601223 Neuronal Intestinal Dysplasia, Type B
OMIM:603472 Neuronal Intranuclear Inclusion Disease
OMIM:182960 Neuronopathy, Distal Hereditary Motor, Type I; HMN1
OMIM:158590 Neuronopathy, Distal Hereditary Motor, Type IIA; HMN2A
OMIM:608634 Neuronopathy, Distal Hereditary Motor, Type IIB; HMN2B
OMIM:613376 Neuronopathy, Distal Hereditary Motor, Type IIC; HMN2C
OMIM:615575 Neuronopathy, Distal Hereditary Motor, Type Iid; HMN2D
OMIM:617721 Neuronopathy, Distal Hereditary Motor, Type IX; HMN9
OMIM:600794 Neuronopathy, Distal Hereditary Motor, Type Va; HMN5A
OMIM:614751 Neuronopathy, Distal Hereditary Motor, Type Vb; HMN5B
OMIM:158580 Neuronopathy, Distal Hereditary Motor, Type Viia; HMN7A
OMIM:607641 Neuronopathy, Distal Hereditary Motor, Type Viib; HMN7B
OMIM:600175 Neuronopathy, Distal Hereditary Motor, Type Viii; HMN8
OMIM:551500 Neuropathy, Ataxia, and Retinitis Pigmentosa
OMIM:605253 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive; CHN
OMIM:162370 Neuropathy, Congenital, with Arthrogryposis Multiplex
OMIM:604484 Neuropathy, Hereditary Motor and Sensory, Okinawa Type; HMSNO
OMIM:605285 Neuropathy, Hereditary Motor and Sensory, Russe Type; HMSNR
OMIM:601152 Neuropathy, Hereditary Motor and Sensory, Type Via; HMSN6A
OMIM:616505 Neuropathy, Hereditary Motor and Sensory, Type Vib; HMSN6B
OMIM:214370 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers
OMIM:256855 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive
OMIM:162380 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
OMIM:608720 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
OMIM:162400 Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A
OMIM:613640 Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C
OMIM:201300 Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A
OMIM:613115 Neuropathy, Hereditary Sensory and Autonomic, Type IIB; HSAN2B
OMIM:223900 Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3
OMIM:608088 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux
OMIM:608654 Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5
OMIM:614653 Neuropathy, Hereditary Sensory and Autonomic, Type VI; HSAN6
OMIM:615548 Neuropathy, Hereditary Sensory and Autonomic, Type VII; HSAN7
OMIM:616488 Neuropathy, Hereditary Sensory and Autonomic, Type Viii; HSAN8
OMIM:256860 Neuropathy, Hereditary Sensory, Atypical
OMIM:613708 Neuropathy, Hereditary Sensory, Type ID; HSN1D
OMIM:614116 Neuropathy, Hereditary Sensory, Type IE; HSN1E
OMIM:615632 Neuropathy, Hereditary Sensory, Type IF; HSN1F
OMIM:614213 Neuropathy, Hereditary Sensory, Type IIC; HSN2C
OMIM:256840 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
OMIM:310470 Neuropathy, Hereditary Sensory, X-Linked
OMIM:602107 Neuropathy, Hereditary Thermosensitive
OMIM:162500 Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP
OMIM:608895 Neuropathy, Hereditary, with or without Age-Related Macular Degeneration; HNARMD
OMIM:256870 Neuropathy, Painful
OMIM:162600 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
OMIM:257000 Neurovisceral Storage Disease with Curvilinear Bodies
OMIM:610717 Neutral Lipid Storage Disease with Myopathy; NLSDM
OMIM:162700 Neutropenia, Chronic Familial
OMIM:257100 Neutropenia, Lethal Congenital, with Eosinophilia
OMIM:607847 Neutropenia, Nonimmune Chronic Idiopathic, of Adults
OMIM:202700 Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1
OMIM:613107 Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2
OMIM:610738 Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3
OMIM:612541 Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4
OMIM:615285 Neutropenia, Severe Congenital, 5, Autosomal Recessive; SCN5
OMIM:616022 Neutropenia, Severe Congenital, 6, Autosomal Recessive; SCN6
OMIM:617014 Neutropenia, Severe Congenital, 7, Autosomal Recessive; SCN7
OMIM:300299 Neutropenia, Severe Congenital, X-Linked; SCNX
OMIM:257150 Neutrophil Actin Dysfunction; NAD
OMIM:162830 Neutrophilia, Hereditary
OMIM:608068 Neutrophilic Dermatosis, Acute Febrile
OMIM:608203 Neutrophil Immunodeficiency Syndrome
OMIM:162820 Neutrophil Migration; NM
OMIM:614323 Nevoid Hypermelanosis, Linear and Whorled; LWNH
OMIM:163050 Nevus Anemicus
OMIM:617025 Nevus Comedonicus; NC
OMIM:162900 Nevus, Epidermal
OMIM:163100 Nevus Flammeus of Nape of Neck
OMIM:607476 Newfoundland Rod-Cone Dystrophy; NFRCD
OMIM:609643 Nguyen Syndrome
OMIM:601358 Nicolaides-Baraitser Syndrome; NCBRS
OMIM:257200 Niemann-Pick Disease, Type A
OMIM:607616 Niemann-Pick Disease, Type B
OMIM:257220 Niemann-Pick Disease, Type C1; NPC1
OMIM:607625 Niemann-Pick Disease, Type C2; NPC2
OMIM:163400 Nievergelt Syndrome
OMIM:610445 Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1
OMIM:163500 Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2
OMIM:610444 Night Blindness, Congenital Stationary, Autosomal Dominant 3; CSNBAD3
OMIM:310500 Night Blindness, Congenital Stationary, Type 1A; CSNB1A
OMIM:257270 Night Blindness, Congenital Stationary, Type 1B; CSNB1B
OMIM:613216 Night Blindness, Congenital Stationary, Type 1C; CSNB1C
OMIM:613830 Night Blindness, Congenital Stationary, Type 1D; CSNB1D
OMIM:614565 Night Blindness, Congenital Stationary, Type 1E; CSNB1E
OMIM:615058 Night Blindness, Congenital Stationary, Type 1F; CSNB1F
OMIM:616389 Night Blindness, Congenital Stationary, Type 1G; CSNB1G
OMIM:617024 Night Blindness, Congenital Stationary, Type 1H; CSNB1H
OMIM:300071 Night Blindness, Congenital Stationary, Type 2A; CSNB2A
OMIM:613078 Nijmegen Breakage Syndrome-Like Disorder; NBSLD
OMIM:251260 Nijmegen Breakage Syndrome; NBS
OMIM:163600 Nipples Inverted
OMIM:163700 Nipples, Supernumerary
OMIM:163729 Nitric Oxide Synthase 3; NOS3
OMIM:163850 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities
OMIM:605820 Nonaka Myopathy; NM
OMIM:258660 Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to
OMIM:158250 Nondisjunction
OMIM:616564 Noonan Syndrome 10; NS10
OMIM:163950 Noonan Syndrome 1; NS1
OMIM:605275 Noonan Syndrome 2; NS2
OMIM:609942 Noonan Syndrome 3; NS3
OMIM:610733 Noonan Syndrome 4; NS4
OMIM:611553 Noonan Syndrome 5; NS5
OMIM:613224 Noonan Syndrome 6; NS6
OMIM:613706 Noonan Syndrome 7; NS7
OMIM:615355 Noonan Syndrome 8; NS8
OMIM:616559 Noonan Syndrome 9; NS9
OMIM:607721 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1; NSLH1
OMIM:617506 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2; NSLH2
OMIM:613563 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL
OMIM:170600 Normokalemic Periodic Paralysis
OMIM:310600 Norrie Disease; ND
OMIM:604901 North American Indian Childhood Cirrhosis; NAIC
OMIM:164000 Nose, Anomalous Shape of
OMIM:310465 N Syndrome; NSX
OMIM:257350 Nuchal Bleb, Familial
OMIM:617386 Nuclear Receptor Subfamily 1, Group H, Member 5, Pseudogene; NR1H5P
OMIM:310650 Nuclear Ribonucleic Acid; NRNA
OMIM:310700 Nystagmus 1, Congenital, X-Linked; NYS1
OMIM:164100 Nystagmus 2, Congenital, Autosomal Dominant; NYS2
OMIM:608345 Nystagmus 3, Congenital, Autosomal Dominant; NYS3
OMIM:193003 Nystagmus 4, Congenital, Autosomal Dominant; NYS4
OMIM:300589 Nystagmus 5, Congenital, X-Linked; NYS5
OMIM:300814 Nystagmus 6, Congenital, X-Linked; NYS6
OMIM:614826 Nystagmus 7, Congenital, Autosomal Dominant; NYS7
OMIM:257400 Nystagmus, Congenital, Autosomal Recessive
OMIM:164150 Nystagmus, Hereditary Vertical
OMIM:310800 Nystagmus, Myoclonic

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